Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.D172Y
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MEN1

NM_001370259.2:p.D172Y

Associated Papers

Multiple endocrine neoplasia type 1 with MEN1 variant of unknown significance, in a patient after the diagnosed of pancreatic neuroendocrine neoplasia.

Tanaka Y et al.

International Cancer Conference Journal, 2024

Alternative splicing generates isoform diversity in MEN1.

Ramachandran A et al.

Endocrine Oncology (bristol, England), 2024

39649118 (PubMed )
Supplement: supplementary_table_3.xlsx › Supplementary_Table_3

Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.

Dreijerink KMA et al.

Epigenetics & Chromatin, 2022

35941657 (PubMed )
Supplement: 13072_2022_461_MOESM5_ESM.xlsx › Database_van_mutaties

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Metabolic expressivity of human genetic variants: NMR metabotyping of MEN1 pathogenic mutants.

Blaise BJ et al.

Journal of Pharmaceutical and Biomedical Analysis, 2014

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.

Vergès B et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

MEN1 gene mutations in sporadic neuroendocrine tumors of foregut derivation.

Fujii T et al.

Pathology International, 1999

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

Poncin J et al.

Human Mutation, 1999

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

Giraud S et al.

American Journal of Human Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."